Canonical Allele Identifier: CA2140879276

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648641C= , CM000676.2:g.60648641C=	GRCh38
NC_000014.8:g.61115359C= , CM000676.1:g.61115359C=	GRCh37
NC_000014.7:g.60185112C=	NCBI36
NG_008231.1:g.5797G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.549G= MANE Select	ENSP00000494686.1:p.Glu183=
ENST00000247182.6:c.549G=	ENSP00000247182.5:p.Glu183=
ENST00000553535.2:n.249-2064G=
ENST00000554986.2:c.42-2064G=	ENSP00000452700.2:n.42-2064G=
ENST00000555955.3:n.1198-2064G=
NM_005982.3:c.549G=	NP_005973.1:p.Glu183=
XM_017021602.2:c.501+48G=	XP_016877091.1:n.501+48G=
NM_005982.4:c.549G= MANE Select	NP_005973.1:p.Glu183=